Variant report

Variant	rs139952728
Chromosome Location	chrX:80067920-80067921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:80067809-80067980	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chrX:80067800-80067950	NB4	blood:	n/a	n/a
3	CTCF	chrX:80067840-80067990	HEK293	kidney:	n/a	n/a
4	RAD21	chrX:80067790-80068058	HepG2	liver:	n/a	n/a
5	CTCF	chrX:80067813-80067998	A549	lung:	n/a	n/a
6	CTCF	chrX:80067716-80068051	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chrX:80067702-80068104	GM12878	blood:	n/a	n/a
8	EBF1	chrX:80067718-80067973	GM12878	blood:	n/a	n/a
9	CTCF	chrX:80067820-80067970	GM12873	blood:	n/a	n/a
10	CTCF	chrX:80067840-80067990	GM12878	blood:	n/a	n/a
11	CTCF	chrX:80067860-80068010	GM12872	blood:	n/a	n/a
12	SMC3	chrX:80067749-80068032	GM12878	blood:	n/a	n/a
13	CTCF	chrX:80067840-80067990	GM12866	blood:	n/a	n/a
14	CTCF	chrX:80067820-80067970	HPAF	blood vessel:	n/a	n/a
15	SPI1	chrX:80067706-80067970	GM12891	blood:	n/a	n/a
16	CTCF	chrX:80067800-80067950	HPF	lung:	n/a	n/a
17	CTCF	chrX:80067800-80067950	BJ	skin:	n/a	n/a
18	CTCF	chrX:80067820-80067970	HA-sp	spinal cord:	n/a	n/a
19	SPI1	chrX:80067620-80067988	GM12891	blood:	n/a	n/a
20	CTCF	chrX:80067780-80067930	GM12865	blood:	n/a	n/a
21	GTF2F1	chrX:80067875-80068058	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chrX:80067860-80068010	GM12867	blood:	n/a	n/a
23	CTCF	chrX:80067827-80067986	MCF-7	breast:	n/a	n/a
24	CTCF	chrX:80067834-80067995	NHEK	skin:	n/a	n/a
25	CTCF	chrX:80067900-80068050	AG09319	gingival:	n/a	n/a
26	CTCF	chrX:80067820-80067970	GM12875	blood:	n/a	n/a
27	CTCF	chrX:80067905-80067937	LNCaP	prostate:	n/a	n/a
28	CTCF	chrX:80067840-80067990	GM12871	blood:	n/a	n/a
29	CTCF	chrX:80067840-80067990	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chrX:80067835-80067998	MCF-7	breast:	n/a	n/a
31	CTCF	chrX:80067820-80067970	GM12864	blood:	n/a	n/a
32	CTCF	chrX:80067860-80068010	A549	lung:	n/a	n/a
33	CTCF	chrX:80067758-80067994	K562	blood:	n/a	n/a
34	CTCF	chrX:80067840-80067990	BE2_C	brain:	n/a	n/a
35	CTCF	chrX:80067652-80068081	MCF-7	breast:	n/a	n/a
36	CTCF	chrX:80067840-80067990	AG09309	skin:	n/a	n/a
37	CTCF	chrX:80067570-80068098	SK-N-SH	brain:	n/a	n/a
38	CTCF	chrX:80067826-80067983	MCF-7	breast:	n/a	n/a
39	RUNX3	chrX:80067610-80068029	GM12878	blood:	n/a	n/a
40	CTCF	chrX:80067874-80067947	K562	blood:	n/a	n/a
41	CTCF	chrX:80067820-80067970	SAEC	small airway:	n/a	n/a
42	CTCF	chrX:80067840-80067990	GM12873	blood:	n/a	n/a
43	CTCF	chrX:80067844-80068004	Medullo	brain:	n/a	n/a
44	RUNX3	chrX:80067668-80068031	GM12878	blood:	n/a	n/a
45	RAD21	chrX:80067699-80068146	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chrX:80067780-80067930	RPTEC	kidney:	n/a	n/a
47	CTCF	chrX:80067780-80067930	HL-60	blood:	n/a	n/a
48	RAD21	chrX:80067765-80068096	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chrX:80067880-80068030	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chrX:80067840-80067990	GM06990	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:80067488..80068198-chrX:80376211..80376936,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-1	chrX:80067610-80068219	XLOC_008020

No data

Variant related genes	Relation type
BRWD3	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33127	chrX:79989618-80370141	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3384055	chrX:80067856-80127787	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80066000-80068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chrX:80066200-80068200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chrX:80066200-80068400	Enhancers	Primary T cells from cord blood	blood
4	chrX:80066200-80068400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chrX:80066200-80068400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chrX:80066200-80068600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chrX:80066800-80068400	Enhancers	Dnd41	blood
8	chrX:80067200-80068200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chrX:80067200-80068400	Enhancers	Primary B cells from cord blood	blood
10	chrX:80067200-80068400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chrX:80067200-80068600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chrX:80067400-80068000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chrX:80067400-80068200	Enhancers	Primary B cells from peripheral blood	blood
14	chrX:80067400-80068200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chrX:80067400-80068200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chrX:80067600-80068000	Enhancers	Primary T cells fromperipheralblood	blood
17	chrX:80067600-80068000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chrX:80067600-80068000	Enhancers	Fetal Thymus	thymus
19	chrX:80067600-80068000	Enhancers	A549	lung
20	chrX:80067600-80068200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chrX:80067600-80068200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chrX:80067600-80068200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chrX:80067600-80068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chrX:80067600-80068200	Enhancers	GM12878-XiMat	blood
25	chrX:80067800-80068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chrX:80067800-80068000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chrX:80067800-80068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chrX:80067800-80069000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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